Canonical Allele Identifier: CA2175513150

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445147_48445157delinsTATATATATAC , CM000677.2:g.48445147_48445157delinsTATATATATAC	GRCh38
NC_000015.9:g.48737344_48737354delinsTATATATATAC , CM000677.1:g.48737344_48737354delinsTATATATATAC	GRCh37
NC_000015.8:g.46524636_46524646delinsTATATATATAC	NCBI36
NG_008805.2:g.205632_205642delinsGTATATATATA , LRG_778:g.205632_205642delinsGTATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+219_5917+229delinsGTATATATATA	ENSP00000453958.2:n.5917+219_5917+229delinsGTATATATATA
ENST00000674301.2:c.5917+219_5917+229delinsGTATATATATA	ENSP00000501333.2:n.5917+219_5917+229delinsGTATATATATA
ENST00000684448.1:n.4591+219_4591+229delinsGTATATATATA
ENST00000316623.10:c.5917+219_5917+229delinsGTATATATATA MANE Select	ENSP00000325527.5:n.5917+219_5917+229delinsGTATATATATA
ENST00000674301.1:c.916+219_916+229delinsGTATATATATA	ENSP00000501333.1:n.916+219_916+229delinsGTATATATATA
ENST00000316623.9:c.5917+219_5917+229delinsGTATATATATA	ENSP00000325527.5:n.5917+219_5917+229delinsGTATATATATA
ENST00000537463.6:c.*1680+219_*1680+229delinsGTATATATATA	ENSP00000440294.2:n.*1680+219_*1680+229delinsGTATATATATA
ENST00000559133.5:c.1224+219_1224+229delinsGTATATATATA
ENST00000560820.1:n.37+219_37+229delinsGTATATATATA
NM_000138.4:c.5917+219_5917+229delinsGTATATATATA , LRG_778t1:c.5917+219_5917+229delinsGTATATATATA	NP_000129.3:n.5917+219_5917+229delinsGTATATATATA
NM_000138.5:c.5917+219_5917+229delinsGTATATATATA MANE Select	NP_000129.3:n.5917+219_5917+229delinsGTATATATATA